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Dog DNA testing illustration

Progressive Retinal Atrophy (crd2-PRA) – American Pit Bull Terrier

Code: H358

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Cone-Rod Dystrophy (CRD) is a disorder of the photoreceptor cells of the eye, which can lead to early-onset blindness in affected dogs.

General information

Cone-Rod Dystrophy (CRD) is a disorder of the photoreceptor cells of the eye, which can lead to early-onset blindness in affected dogs. This variant of the disorder, Cone-Rod Dystrophy, Type 2 (crd2, or crd2-PRA) is found in the American Pit Bull Terrier. It is caused by a recessive mutation to the gene IQCB1. A similar variant of the disease, called crd1, occurs in the American Staffordshire Terrier.

Specifications

Breeds

American Pit Bull Terrier
Gene

IQCB1
Chromosome

33
Mutation

c.952_53insC
Organ

Sensory organs
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

crd2; crd2-PRA

Clinical features

Affected dogs have progressively degenerating retinas, which grow thinner and more “ragged” within the first few months after birth. They will display severe vision impairment in both well-lit and dimly-lit conditions, which can progress to more severe blindness within the first year of age.

References

Pubmed ID: 24045995

Year published: 2013

Omia ID: 1675

Omia variant ID:

Turnaround information

  • 15 working days